Article
Characterization of cytoskeletal and structural effects of INF2 variants causing glomerulopathy and neuropathy.
Scientific reports - 25 Jul 2023
Ueda Hiroko, Tran Quynh Thuy Huong, Tran Linh Nguyen Truc, Higasa Koichiro, Ikeda Yoshiki, Kondo Naoyuki, Hashiyada Masaki, Sato Chika, Sato Yoshinori, Ashida Akira, Nishio Saori, Iwata Yasunori, Iida Hiroyuki, Matsuoka Daisuke, Hidaka Yoshihiko, Fukui Kenji, Itami Suzu, Kawashita Norihito, Sugimoto Keisuke, Nozu Kandai, Hattori Motoshi, Tsukaguchi Hiroyasu
Abstract excerpt
Focal segmental glomerulosclerosis (FSGS) is a common glomerular injury leading to end-stage renal disease. Monogenic FSGS is primarily ascribed to decreased podocyte integrity. Variants between residues 184 and 245 of INF2, an actin assembly factor, produce the monogenic FSGS phenotype. Meanwhile, variants between residues 57 and 184 cause a dual-faceted disease involving peripheral neurons and podocytes...
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